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LOVD - Variant listings for BRCA2

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

18 entries
entries per page

Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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10 c.978C>A 1206C>A p.S326R 0.00058 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 3.61 7.92 0.001 - 0.02859 -
10 c.1151C>T 1379C>T p.S384F 0.00042 1 - Not pathogenic or of no clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.0987 - - 0.2104 - 0.02077 -
10 c.1804G>A 2032G>A p.G602R 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.00026 - 0.129 1.479 - 4.96057E-5 -
11 c.2606C>T 2834C>T p.S869L 0.1037 3 - Uncertain Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 9.43 0.52 - 1.156 - 5.66856 -
11 c.2786T>C 3014T>C p.L929S 0.00007 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.73 4.97 0.001 - 0.00363 -
11 c.3793T>A 4021T>A p.C1265S 0.00088 1 - Not pathogenic or of no clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.042 - - 1.0294 - 0.04323 -
11 c.4258G>T 4486G>T p.D1420Y 0.00010 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.02 0.00 0.02 - 1.11 4.52 0.001 - 0.00502 -
11 c.6821G>T 7049G>T p.G2274V 0.0117 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.215 1.2 - 2.249 - 0.58024 -
13 c.6953G>A 7181G>A p.R2318Q 0.00265 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.1264 - - 1.0294 - 0.13012 -
18 c.7994A>G 8222A>G p.D2665G 0.0183 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 0.0021 1.2 - 1.733 - 0.00437 -
20 c.8567A>C 8795A>C p.E2856A 0.0398 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 1.05 1.2 - 1.064 - 1.34064 -
22 c.8905G>A 9133G>A p.V2969M 0.00001 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 0.269 - 0.00871 0.151 - 0.00035 -
24 c.9155G>A 9383G>A p.R3052Q 0.00544 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.66 0.01 0.00 0.66 1 - 0.0575 0.049 - 0.00282 -
24 c.9235G>A 9463G>A p.V3079I 0.00002 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 1 - 0.158 0.00417 - 0.00066 -
25 c.9275A>G 9503A>G p.Y3092C 0.0250 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 1.023 - 0.00457 1.2883 - 0.00602 -
25 c.9292T>C 9520T>C p.Y3098H 0.00001 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 5.012 - 0.00035 0.195 - 0.00034 -
26 c.9509A>G 9737A>G p.D3170G 0.00003 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.02 0.038 - 0.0288 1.175 - 0.00129 -
27 c.10045A>G 10273A>G p.T3349A 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.0004 - 0.195 0.0589 - 4.59420E-6 -
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Legend: [ BRCA2 full legend ]

Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. BIC DNA change: Variation at DNA-level, BIC format Protein change: Variation at protein level. Posterior P: Posterior probability IARC Class: IARC Class Key Observational Reference: Primary reference Prior P reference: Secondary reference Missense analysis Prior P: Align-GVGD prior probability Splicing prior P: Splicing prior probability Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: Combined prior probability Segregation LR: Segregation likelihood ratio Pathology LR: Pathology likelihood ratio Sum Family LR: Summary Family History likelihood ratio Co-occurrence LR: Co-occurrence likelihood ratio case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: Product of likelihood ratios Comments: alternate references, caveats, and additional information.

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